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Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.

Type I osteogenesis imperfecta (OI) is a dominantly inherited disease characterized clinically by bone fractures during childhood, blue sclerae, and frequent hearing loss accompanied by a decreased content of type I collagen in bone and skin. Cultured skin fibroblasts from three individuals affected...

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Pubblicato in:Proc Natl Acad Sci U S A
Autori principali: Barsh, G S, David, K E, Byers, P H
Natura: Artigo
Lingua:Inglês
Pubblicazione: National Academy of Sciences 1982
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC346523/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/6954526/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.79.12.3838
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